Demonstration of cerebellar atrophy in neuroacanthocytosis of 2 siblings.
Neuroacanthocytosis is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis in the peripheral blood. Clinical manifestations of this disorder resemble those of Huntington disease (HD). Neuroimaging features of neuroacanthocytosis are atrophy and signal intensity change of the striata on MR imaging, as in HD. We report herein the cases of 2 siblings with neuroacanthocytosis showing cerebellar atrophy as well as atrophy and signal intensity changes of striata.
Katsube
T
T
Department of Radiology, Kinki University School of Medicine, Osaka-Sayama, Japan. katsube@radiol.med.kindai.ac.jp
Shimono
T
T
Ashikaga
R
R
Hosono
M
M
Kitagaki
H
H
Murakami
T
T
D000328:Adult; D001284:Atrophy; D002526:Cerebellar Diseases / Q000209:etiology* / Q000473:pathology*; D002531:Cerebellum / Q000473:pathology*; D006801:Humans; D008279:Magnetic Resonance Imaging; D008297:Male; D017072:Neostriatum / Q000473:pathology; D054546:Neuroacanthocytosis / Q000150:complications* / Q000473:pathology*; D035781:Siblings